Table 2.

Variants of definite and possible importance found in suspected FH patient cohort of Latvian population

CAT	Gene	rs code	AAF	FRQ	Variants	Description with references
1	APOB	rs5742904	T = 0,016	T = 0,001	p.(Arg3527Gln)	Hypercholesterolemia [18, 40, 41, 44, 49, 50, 52], associated with increased LDL-C [51]
1	LDLR	rs147509697	A = 0,011	A = 0,001	p.(Gly20Arg)	Hypercholesterolaemia, possibly damaging [38], found in FH patient [39–43], used in LIPOCHIP – FH diagnosis panel [44]
1	LDLR		T = 0,005		p.(Arg350*)	Hypercholesterolaemia, truncated peptide [13, 36, 37, 50]
1	LDLR	rs17248882	A = 0,005	A = 0.002	c.1706-10G > A	Hypercholesterolaemia? [45, 47], 3’splice acceptor mutation in intron 11 [46, 48], computed estimation – outside splicing regulatory regions [38], found in seven FH patients [40, 49]
2	APOB	rs201990496	C = 0,005	A = 0.000	p.(Ser3915Cys)	No information found
2	APOB	rs151009667	T = 0,011	T = 0.002	p.(Arg1689His)	Hypertriglyceridaemia?[53]
2	APOB		G = 0,005		p.(Tyr144His)	No information found
3	APOB	rs72654423	C = 0,005	C = 0.003	p.(Ile4314Val)	Found in individuals with high TG levels [63]
3	APOB	rs61743502	G = 0,005	G = 0.003	p.(Val4265Ala)	No information found
3	APOB	rs1801696	T = 0,016	T = 0.002	p.(Glu2566Lys)	Hypertriglyceridaemia?[53]
3	APOB	rs72653092	T = 0,011	T = 0.001	p.(Ser2429Thr)	Hypertriglyceridaemia?[53]
3	APOB		T = 0,005		p.(Val2095Glu)	No information found
3	APOB		A = 0,005		p.(Met755Leu)	No information found
3	APOB	rs146152405	A = 0,005	T = 0.001	p.(Arg214Leu)	No information found
3	LDLR		G = 0,005		c.2141-9 T > G	No information found

CAT – our designated category of variant; AAF – alternative allele frequency in our cohort; FRQ – frequency of general population (http://www.ncbi.nlm.nih.gov/); Variant – amino acid exchange (amino acid numbering according to Human Genome Variation Society [64])